Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02535:Abcc9'

297464

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Abcc9

Ensembl Gene

ENSMUSG00000030249

Gene Name

ATP-binding cassette, sub-family C member 9

Synonyms

SUR2A, Sur2, SUR2B

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

IGL02535

Quality Score

Status

Chromosome

Chromosomal Location

142533588-142648041 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 142574152 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 993 (D993E)

Ref Sequence

ENSEMBL: ENSMUSP00000144779 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073173] [ENSMUST00000087527] [ENSMUST00000100827] [ENSMUST00000111771] [ENSMUST00000205202]

AlphaFold

P70170

Predicted Effect

probably benign
Transcript: ENSMUST00000073173
AA Change: D993E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000072914
Gene: ENSMUSG00000030249
AA Change: D993E

Domain	Start	End	E-Value	Type
transmembrane domain	28	50	N/A	INTRINSIC
transmembrane domain	71	93	N/A	INTRINSIC
transmembrane domain	103	125	N/A	INTRINSIC
transmembrane domain	137	159	N/A	INTRINSIC
transmembrane domain	169	188	N/A	INTRINSIC
low complexity region	265	276	N/A	INTRINSIC
Pfam:ABC_membrane	297	583	7.7e-33	PFAM
AAA	659	867	3.11e-13	SMART
coiled coil region	881	935	N/A	INTRINSIC
Pfam:ABC_membrane	956	1228	6.6e-35	PFAM
AAA	1300	1502	9.94e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000087527
AA Change: D1028E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000084805
Gene: ENSMUSG00000030249
AA Change: D1028E

Domain	Start	End	E-Value	Type
transmembrane domain	28	50	N/A	INTRINSIC
transmembrane domain	71	93	N/A	INTRINSIC
transmembrane domain	103	125	N/A	INTRINSIC
transmembrane domain	137	159	N/A	INTRINSIC
transmembrane domain	169	188	N/A	INTRINSIC
low complexity region	265	276	N/A	INTRINSIC
Pfam:ABC_membrane	297	583	8e-33	PFAM
AAA	694	902	3.11e-13	SMART
coiled coil region	916	970	N/A	INTRINSIC
Pfam:ABC_membrane	991	1263	6.8e-35	PFAM
AAA	1335	1537	9.94e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000100827
AA Change: D1028E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000098390
Gene: ENSMUSG00000030249
AA Change: D1028E

Domain	Start	End	E-Value	Type
transmembrane domain	28	50	N/A	INTRINSIC
transmembrane domain	71	93	N/A	INTRINSIC
transmembrane domain	103	125	N/A	INTRINSIC
transmembrane domain	137	159	N/A	INTRINSIC
transmembrane domain	169	188	N/A	INTRINSIC
low complexity region	265	276	N/A	INTRINSIC
Pfam:ABC_membrane	297	583	7.1e-35	PFAM
AAA	694	902	3.11e-13	SMART
coiled coil region	916	970	N/A	INTRINSIC
Pfam:ABC_membrane	991	1263	5.2e-38	PFAM
AAA	1335	1520	5.13e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000111771
AA Change: D1015E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000107401
Gene: ENSMUSG00000030249
AA Change: D1015E

Domain	Start	End	E-Value	Type
transmembrane domain	28	50	N/A	INTRINSIC
transmembrane domain	71	93	N/A	INTRINSIC
transmembrane domain	103	125	N/A	INTRINSIC
transmembrane domain	137	159	N/A	INTRINSIC
transmembrane domain	169	188	N/A	INTRINSIC
low complexity region	265	276	N/A	INTRINSIC
Pfam:ABC_membrane	297	583	1.4e-32	PFAM
AAA	694	889	3.77e-12	SMART
coiled coil region	903	957	N/A	INTRINSIC
Pfam:ABC_membrane	978	1250	1.2e-34	PFAM
AAA	1322	1524	9.94e-12	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194811

Predicted Effect

probably benign
Transcript: ENSMUST00000205202
AA Change: D993E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000144779
Gene: ENSMUSG00000030249
AA Change: D993E

Domain	Start	End	E-Value	Type
transmembrane domain	28	50	N/A	INTRINSIC
transmembrane domain	71	93	N/A	INTRINSIC
transmembrane domain	103	125	N/A	INTRINSIC
transmembrane domain	137	159	N/A	INTRINSIC
transmembrane domain	169	188	N/A	INTRINSIC
low complexity region	265	276	N/A	INTRINSIC
Pfam:ABC_membrane	297	583	6.9e-35	PFAM
AAA	659	867	3.11e-13	SMART
coiled coil region	881	935	N/A	INTRINSIC
Pfam:ABC_membrane	956	1228	5e-38	PFAM
AAA	1300	1502	9.94e-12	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. The human protein is thought to form ATP-sensitive potassium channels in cardiac, skeletal, and vascular and non-vascular smooth muscle. Protein structure suggests a role as the drug-binding channel-modulating subunit of the extrapancreatic ATP-sensitive potassium channels. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2015]
PHENOTYPE: Mice homozygous for a null allele display lower serum glucose, enhanced insulin action, growth retardation, hypertension and spontaneous death due to episodic coronary artery vasospasm. Homozygous exon 5 deletion leads to cardiac mitochondrial defects, cardiomyopathy, and early postnatal death. [provided by MGI curators]

Allele List at MGI

All alleles(4) : Targeted(4)

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap1	T	C	11: 69,773,520 (GRCm39)	N430D	probably benign	Het
Actl11	T	A	9: 107,807,136 (GRCm39)	D486E	possibly damaging	Het
Adh6a	A	G	3: 138,033,151 (GRCm39)	N281D	probably benign	Het
Apon	A	T	10: 128,090,823 (GRCm39)	E167V	probably damaging	Het
Bahcc1	T	A	11: 120,178,362 (GRCm39)	M2307K	possibly damaging	Het
Cdca3	A	G	6: 124,807,521 (GRCm39)	T10A	probably damaging	Het
Cplane1	T	G	15: 8,204,322 (GRCm39)	V65G	probably damaging	Het
Dusp16	T	C	6: 134,695,790 (GRCm39)	E347G	probably benign	Het
Dysf	A	T	6: 84,126,679 (GRCm39)	Y1298F	possibly damaging	Het
F12	T	C	13: 55,574,157 (GRCm39)	D25G	possibly damaging	Het
F5	T	A	1: 164,026,302 (GRCm39)	S1625T	probably damaging	Het
Fbxl2	T	C	9: 113,808,575 (GRCm39)	E372G	probably benign	Het
Flrt1	T	C	19: 7,074,098 (GRCm39)	I150V	probably benign	Het
Grin2b	T	A	6: 135,756,367 (GRCm39)	I453F	possibly damaging	Het
Hivep2	C	T	10: 14,015,241 (GRCm39)	R1803C	probably damaging	Het
Il33	A	G	19: 29,930,147 (GRCm39)	N81D	probably benign	Het
Ipo7	T	C	7: 109,653,233 (GRCm39)	Y977H	probably damaging	Het
Lyst	T	C	13: 13,824,927 (GRCm39)	V1514A	probably benign	Het
Map1a	C	A	2: 121,132,658 (GRCm39)	S920*	probably null	Het
Nlrp9c	T	C	7: 26,071,522 (GRCm39)	N862S	probably damaging	Het
Or1e29	A	G	11: 73,667,442 (GRCm39)	V237A	probably benign	Het
Or8k22	A	G	2: 86,163,019 (GRCm39)	M227T	probably damaging	Het
Or9s23	C	A	1: 92,500,943 (GRCm39)	Q17K	probably benign	Het
P2rx2	T	A	5: 110,490,219 (GRCm39)	T134S	probably benign	Het
Papolg	T	C	11: 23,840,245 (GRCm39)	D77G	probably benign	Het
Pkd1l3	A	T	8: 110,367,522 (GRCm39)	R1240*	probably null	Het
Radx	A	T	X: 138,393,396 (GRCm39)	K217I	probably damaging	Het
Slc22a8	A	T	19: 8,587,567 (GRCm39)	T514S	probably benign	Het
Slc39a5	T	C	10: 128,235,199 (GRCm39)	D136G	probably benign	Het
Tnn	T	C	1: 159,950,222 (GRCm39)		probably null	Het
Trav8d-2	A	T	14: 53,280,141 (GRCm39)	S44C	probably damaging	Het
Tubb1	A	G	2: 174,299,359 (GRCm39)	N347S	probably benign	Het
Ubap1	C	T	4: 41,379,667 (GRCm39)	R294*	probably null	Het
Ube2o	C	T	11: 116,432,591 (GRCm39)	V792M	probably benign	Het
Usp13	A	G	3: 32,892,075 (GRCm39)	S85G	probably benign	Het
Vmac	C	T	17: 57,022,550 (GRCm39)	M61I	probably benign	Het
Vmn1r54	T	A	6: 90,246,260 (GRCm39)	I58N	possibly damaging	Het
Zmym5	A	G	14: 57,035,123 (GRCm39)		probably null	Het

Other mutations in Abcc9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Abcc9	APN	6	142,578,916 (GRCm39)	splice site	probably benign
IGL00670:Abcc9	APN	6	142,633,007 (GRCm39)	missense	probably damaging	1.00
IGL00675:Abcc9	APN	6	142,610,347 (GRCm39)	missense	probably damaging	1.00
IGL00741:Abcc9	APN	6	142,632,956 (GRCm39)	missense	probably benign
IGL01371:Abcc9	APN	6	142,602,340 (GRCm39)	missense	probably benign	0.04
IGL01686:Abcc9	APN	6	142,548,801 (GRCm39)	missense	possibly damaging	0.71
IGL01724:Abcc9	APN	6	142,610,259 (GRCm39)	missense	probably benign	0.00
IGL01807:Abcc9	APN	6	142,551,640 (GRCm39)	missense	probably damaging	1.00
IGL01941:Abcc9	APN	6	142,551,630 (GRCm39)	missense	probably damaging	1.00
IGL01946:Abcc9	APN	6	142,571,763 (GRCm39)	missense	probably benign	0.16
IGL02210:Abcc9	APN	6	142,633,097 (GRCm39)	missense	probably damaging	1.00
IGL02498:Abcc9	APN	6	142,617,265 (GRCm39)	critical splice donor site	probably null
IGL02552:Abcc9	APN	6	142,551,645 (GRCm39)	missense	possibly damaging	0.94
IGL02812:Abcc9	APN	6	142,643,516 (GRCm39)	missense	possibly damaging	0.77
IGL02954:Abcc9	APN	6	142,592,007 (GRCm39)	missense	probably damaging	0.97
IGL03035:Abcc9	APN	6	142,573,319 (GRCm39)	missense	probably damaging	1.00
IGL03040:Abcc9	APN	6	142,598,323 (GRCm39)	nonsense	probably null
IGL03100:Abcc9	APN	6	142,640,270 (GRCm39)	missense	probably damaging	1.00
IGL03157:Abcc9	APN	6	142,551,649 (GRCm39)	splice site	probably benign
R0054:Abcc9	UTSW	6	142,547,500 (GRCm39)	critical splice donor site	probably null
R0054:Abcc9	UTSW	6	142,547,500 (GRCm39)	critical splice donor site	probably null
R0084:Abcc9	UTSW	6	142,604,277 (GRCm39)	missense	probably damaging	0.97
R0211:Abcc9	UTSW	6	142,634,710 (GRCm39)	missense	probably benign	0.01
R0349:Abcc9	UTSW	6	142,610,351 (GRCm39)	missense	probably benign	0.00
R0387:Abcc9	UTSW	6	142,585,230 (GRCm39)	nonsense	probably null
R0393:Abcc9	UTSW	6	142,591,604 (GRCm39)	splice site	probably benign
R0528:Abcc9	UTSW	6	142,638,606 (GRCm39)	missense	probably damaging	1.00
R0588:Abcc9	UTSW	6	142,548,787 (GRCm39)	nonsense	probably null
R0646:Abcc9	UTSW	6	142,627,830 (GRCm39)	missense	probably benign	0.05
R0691:Abcc9	UTSW	6	142,584,979 (GRCm39)	missense	possibly damaging	0.94
R0881:Abcc9	UTSW	6	142,592,029 (GRCm39)	missense	probably damaging	1.00
R1264:Abcc9	UTSW	6	142,592,103 (GRCm39)	splice site	probably benign
R1340:Abcc9	UTSW	6	142,628,581 (GRCm39)	splice site	probably benign
R1413:Abcc9	UTSW	6	142,573,245 (GRCm39)	missense	possibly damaging	0.65
R1413:Abcc9	UTSW	6	142,536,222 (GRCm39)	missense	probably damaging	1.00
R1535:Abcc9	UTSW	6	142,610,361 (GRCm39)	missense	probably damaging	1.00
R1595:Abcc9	UTSW	6	142,578,821 (GRCm39)	missense	probably benign	0.02
R1670:Abcc9	UTSW	6	142,540,448 (GRCm39)	missense	possibly damaging	0.89
R1769:Abcc9	UTSW	6	142,573,194 (GRCm39)	splice site	probably benign
R1888:Abcc9	UTSW	6	142,625,040 (GRCm39)	missense	probably benign
R1888:Abcc9	UTSW	6	142,625,040 (GRCm39)	missense	probably benign
R1918:Abcc9	UTSW	6	142,643,408 (GRCm39)	missense	probably damaging	1.00
R1925:Abcc9	UTSW	6	142,617,333 (GRCm39)	missense	probably damaging	0.98
R2019:Abcc9	UTSW	6	142,621,160 (GRCm39)	missense	probably damaging	1.00
R2698:Abcc9	UTSW	6	142,578,862 (GRCm39)	missense	possibly damaging	0.93
R2860:Abcc9	UTSW	6	142,571,736 (GRCm39)	missense	probably benign	0.01
R2861:Abcc9	UTSW	6	142,571,736 (GRCm39)	missense	probably benign	0.01
R2980:Abcc9	UTSW	6	142,633,034 (GRCm39)	missense	probably benign	0.00
R3115:Abcc9	UTSW	6	142,634,755 (GRCm39)	missense	probably benign	0.08
R3617:Abcc9	UTSW	6	142,625,015 (GRCm39)	missense	probably damaging	0.97
R3880:Abcc9	UTSW	6	142,584,959 (GRCm39)	missense	probably damaging	1.00
R4063:Abcc9	UTSW	6	142,551,645 (GRCm39)	missense	possibly damaging	0.94
R4065:Abcc9	UTSW	6	142,591,616 (GRCm39)	missense	probably damaging	1.00
R4290:Abcc9	UTSW	6	142,539,738 (GRCm39)	missense	probably benign	0.08
R4538:Abcc9	UTSW	6	142,560,138 (GRCm39)	critical splice donor site	probably null
R4615:Abcc9	UTSW	6	142,634,833 (GRCm39)	missense	possibly damaging	0.93
R4659:Abcc9	UTSW	6	142,618,321 (GRCm39)	splice site	probably null
R4774:Abcc9	UTSW	6	142,585,043 (GRCm39)	missense	probably damaging	1.00
R4788:Abcc9	UTSW	6	142,566,456 (GRCm39)	nonsense	probably null
R4832:Abcc9	UTSW	6	142,617,282 (GRCm39)	missense	probably damaging	1.00
R4844:Abcc9	UTSW	6	142,634,824 (GRCm39)	missense	probably benign	0.09
R4903:Abcc9	UTSW	6	142,546,691 (GRCm39)	missense	probably damaging	1.00
R4921:Abcc9	UTSW	6	142,536,162 (GRCm39)	missense	probably benign
R4960:Abcc9	UTSW	6	142,566,509 (GRCm39)	splice site	probably null
R4983:Abcc9	UTSW	6	142,627,867 (GRCm39)	missense	probably benign	0.44
R4986:Abcc9	UTSW	6	142,573,317 (GRCm39)	missense	probably benign	0.00
R5060:Abcc9	UTSW	6	142,571,836 (GRCm39)	intron	probably benign
R5120:Abcc9	UTSW	6	142,602,344 (GRCm39)	missense	probably benign	0.00
R5198:Abcc9	UTSW	6	142,571,726 (GRCm39)	missense	probably benign	0.00
R5301:Abcc9	UTSW	6	142,536,207 (GRCm39)	missense	probably benign	0.41
R5328:Abcc9	UTSW	6	142,627,785 (GRCm39)	missense	probably benign	0.25
R5568:Abcc9	UTSW	6	142,634,742 (GRCm39)	missense	possibly damaging	0.62
R5654:Abcc9	UTSW	6	142,571,371 (GRCm39)	intron	probably benign
R5694:Abcc9	UTSW	6	142,546,673 (GRCm39)	missense	probably damaging	1.00
R5734:Abcc9	UTSW	6	142,571,457 (GRCm39)	intron	probably benign
R5774:Abcc9	UTSW	6	142,574,285 (GRCm39)	missense	probably damaging	0.98
R5802:Abcc9	UTSW	6	142,602,402 (GRCm39)	critical splice acceptor site	probably null
R5890:Abcc9	UTSW	6	142,550,554 (GRCm39)	critical splice donor site	probably null
R5946:Abcc9	UTSW	6	142,571,678 (GRCm39)	missense	probably damaging	1.00
R5971:Abcc9	UTSW	6	142,585,301 (GRCm39)	missense	probably damaging	1.00
R6078:Abcc9	UTSW	6	142,585,301 (GRCm39)	missense	probably damaging	1.00
R6392:Abcc9	UTSW	6	142,627,825 (GRCm39)	missense	probably damaging	1.00
R6400:Abcc9	UTSW	6	142,638,435 (GRCm39)	makesense	probably null
R6478:Abcc9	UTSW	6	142,625,034 (GRCm39)	missense	probably damaging	1.00
R6481:Abcc9	UTSW	6	142,550,621 (GRCm39)	missense	probably damaging	0.99
R6564:Abcc9	UTSW	6	142,548,834 (GRCm39)	missense	probably damaging	1.00
R6700:Abcc9	UTSW	6	142,633,013 (GRCm39)	missense	possibly damaging	0.94
R6902:Abcc9	UTSW	6	142,624,953 (GRCm39)	missense	probably damaging	1.00
R6946:Abcc9	UTSW	6	142,624,953 (GRCm39)	missense	probably damaging	1.00
R6989:Abcc9	UTSW	6	142,634,707 (GRCm39)	missense	probably damaging	0.97
R7052:Abcc9	UTSW	6	142,604,261 (GRCm39)	missense	probably benign	0.00
R7062:Abcc9	UTSW	6	142,544,872 (GRCm39)	missense	probably damaging	1.00
R7121:Abcc9	UTSW	6	142,634,853 (GRCm39)	nonsense	probably null
R7284:Abcc9	UTSW	6	142,628,643 (GRCm39)	missense	probably damaging	1.00
R7296:Abcc9	UTSW	6	142,617,319 (GRCm39)	missense	probably damaging	1.00
R7353:Abcc9	UTSW	6	142,546,731 (GRCm39)	missense	probably damaging	1.00
R7359:Abcc9	UTSW	6	142,617,408 (GRCm39)	missense	probably damaging	1.00
R7815:Abcc9	UTSW	6	142,598,331 (GRCm39)	missense	probably damaging	1.00
R7894:Abcc9	UTSW	6	142,539,733 (GRCm39)	makesense	probably null
R8095:Abcc9	UTSW	6	142,590,048 (GRCm39)	missense	probably benign	0.22
R8099:Abcc9	UTSW	6	142,621,257 (GRCm39)	missense	probably damaging	1.00
R8245:Abcc9	UTSW	6	142,539,870 (GRCm39)	critical splice acceptor site	probably null
R8355:Abcc9	UTSW	6	142,638,478 (GRCm39)	missense	probably benign	0.00
R8356:Abcc9	UTSW	6	142,536,096 (GRCm39)	missense	probably benign	0.06
R8365:Abcc9	UTSW	6	142,544,798 (GRCm39)	missense	probably benign	0.03
R8846:Abcc9	UTSW	6	142,551,610 (GRCm39)	missense	possibly damaging	0.56
R8886:Abcc9	UTSW	6	142,546,420 (GRCm39)	intron	probably benign
R8939:Abcc9	UTSW	6	142,624,977 (GRCm39)	missense	probably damaging	0.99
R9049:Abcc9	UTSW	6	142,628,658 (GRCm39)	missense	probably damaging	0.99
R9113:Abcc9	UTSW	6	142,591,656 (GRCm39)	missense	probably damaging	1.00
R9368:Abcc9	UTSW	6	142,640,251 (GRCm39)	missense	probably damaging	1.00
R9401:Abcc9	UTSW	6	142,543,836 (GRCm39)	missense	possibly damaging	0.90
R9407:Abcc9	UTSW	6	142,574,229 (GRCm39)	missense	possibly damaging	0.88
R9597:Abcc9	UTSW	6	142,578,813 (GRCm39)	missense	possibly damaging	0.81
R9600:Abcc9	UTSW	6	142,536,102 (GRCm39)	missense	possibly damaging	0.54
R9687:Abcc9	UTSW	6	142,578,889 (GRCm39)	missense	probably benign	0.00
R9698:Abcc9	UTSW	6	142,571,757 (GRCm39)	missense	probably benign
R9761:Abcc9	UTSW	6	142,544,854 (GRCm39)	missense	possibly damaging	0.78
U15987:Abcc9	UTSW	6	142,585,301 (GRCm39)	missense	probably damaging	1.00
Z1177:Abcc9	UTSW	6	142,591,664 (GRCm39)	missense	probably null	0.96
Z1177:Abcc9	UTSW	6	142,571,708 (GRCm39)	missense	probably benign	0.07
Z1177:Abcc9	UTSW	6	142,540,484 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16